Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

ABSTRACT: We recently reported that mutations in the valosin-containing protein (VCP) gene are a cause of 1%-2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p.Asn387Thr, and p.R662C) were found in three U.S. cases, each of whom presented with progressive upper and lower motor neuron signs consistent with definite ALS by El Escorial diagnostic criteria. Our data indicate that VCP mutations may underlie apparently sporadic ALS but account for <1% of this form of disease.

SUBMITTER: Abramzon Y 

PROVIDER: S-EPMC3391327 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature